The principle function of the kidney is based on control of renal perfusion and filtration, counter current concentration of solutes, and epithelial transport function. The kidney is one of our major homeostatic organs and controls volume and osmolytes- a prerequisite for maintaining blood pressure as well as specific ion concentration gradients required for the proper function of any cell. The kidney exerts endocrine functions and clears metabolic end products. There are more than 500 rare kidney diseases (including metabolic diseases). Not surprisingly the kidney is affected in metabolic diseases and kidney disease itself is a main cause of metabolic disturbance.
Together with our collaborators from pediatric and adult nephrology our group explores the underlying basis of rare kidney disease by comprehensive genomic profiling.

Currently we focus on the following groups of disease, but our brains are always open for new questions and collaborations:

• already prenatally manifesting kidney disease
• monogenic forms of nephrolithiasis
• the genetic basis of proteinuric (SRNS, FSGS, recurrent FSGS) kidney disease and renal thrombotic microangiopathies (rTMA)/atypical haemolytic uremic syndrome (aHUS),
• the spectrum of autosomal dominant tubulointertstitial kidney disease (ADTKD)
• establishing kidney derived cell free DNA as a biomarker for renal disease,
• implementation of new sequencing and bioinformatic approaches to uncover renal disease.

Using complementary methods for comprehensive genomic profiling in rare kidney disease allows us to discover missing aspect and system links required for a more accurate understanding  of renal homeostasis. Integration of the data will open novel therapeutic avenues for RKD’s that may also prove pivotal for treatment of common disorders.